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Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain

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Abstract

Epilepsy is the most common neurological disorder affecting young people. The etiologies are multiple and most cases are sporadic. However, some rare families with Mendelian inheritance have provided evidence of genes’ important role in epilepsy. Two important but apparently different groups of disorders have been extensively studied: epilepsies associated with malformations of cortical development (MCDs) and epilepsies associated with a structurally normal brain (or with minimal abnormalities only). This review is focused on clinical and molecular aspects of focal cortical dysplasia, polymicrogyria, periventricular nodular heterotopia, subcortical band heterotopia, lissencephaly and schizencephaly as examples of MCDs. Juvenile myoclonic epilepsy, childhood absence epilepsy, some familial forms of focal epilepsy and epilepsies associated with febrile seizures are discussed as examples of epileptic conditions in (apparently) structurally normal brains.

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Acknowledgments

The author thanks Dr. Timo Krings for providing the MRI pictures for Figs. 2 and 5.

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  1. Division of Neurology, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, 5W-445, 399 Bathurst St., Toronto, M5T 2S8, Canada

    Danielle M. Andrade

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Andrade, D.M. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. Hum Genet 126, 173–193 (2009). https://doi.org/10.1007/s00439-009-0702-1

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